Canonical Allele Identifier: CA4707105

Linked Data

ClinVar Variation Id: 437080
dbSNP Id: rs3736497
gnomAD v2: 8-33357994-A-C
gnomAD v3: 8-33500476-A-C
gnomAD v4: 8-33500476-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33500476A>C , CM000670.2:g.33500476A>C GRCh38
NC_000008.10:g.33357994A>C , CM000670.1:g.33357994A>C GRCh37
NC_000008.9:g.33477536A>C NCBI36
NG_033257.1:g.17710T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360128.11:c.*1847A>C (MAK16) MANE Select ENSP00000353246.5:n.*1847A>C
ENST00000431156.7:c.1274T>G (TTI2) MANE Select ENSP00000411169.3:p.Leu425Arg
ENST00000360128.10:c.*1847A>C (MAK16) ENSP00000353246.5:n.*1847A>C
ENST00000360742.9:c.1274T>G (TTI2) ENSP00000353971.5:p.Leu425Arg
ENST00000431156.6:c.1274T>G (TTI2) ENSP00000411169.2:p.Leu425Arg
ENST00000519356.1:n.480T>G (TTI2)
ENST00000520636.5:c.1181T>G (TTI2) ENSP00000428401.1:p.Leu394Arg
ENST00000613904.1:c.1274T>G (TTI2) ENSP00000478396.1:p.Leu425Arg
NM_001102401.2:c.1274T>G (TTI2) NP_001095871.1:p.Leu425Arg
NM_001265581.1:c.1274T>G (TTI2) NP_001252510.1:p.Leu425Arg
NM_025115.3:c.1274T>G (TTI2) NP_079391.2:p.Leu425Arg
NM_032509.3:c.*1847A>C (MAK16) NP_115898.2:n.*1847A>C
XM_011544665.1:c.1181T>G (TTI2) XP_011542967.1:p.Leu394Arg
NM_001330505.1:c.1181T>G (TTI2) NP_001317434.1:p.Leu394Arg
NM_032509.4:c.*1847A>C (MAK16) MANE Select NP_115898.2:n.*1847A>C
NM_001102401.4:c.1274T>G (TTI2) MANE Select NP_001095871.1:p.Leu425Arg
NM_001265581.2:c.1274T>G (TTI2) NP_001252510.1:p.Leu425Arg
NM_001330505.3:c.1181T>G (TTI2) NP_001317434.1:p.Leu394Arg
NM_025115.5:c.1274T>G (TTI2) NP_079391.2:p.Leu425Arg